Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failur...
Comprehensive, easy-to-understand information about this condition
How we create this content →Connect with organizations supporting the Shwachman-Diamond syndrome community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Connect with organizations supporting the Shwachman-Diamond syndrome community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Connect with organizations supporting the Shwachman-Diamond syndrome community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
1 peer-reviewed source from PubMed
Common questions about Shwachman-Diamond syndrome
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.